Are richness patterns of common and rare species equally well explained by environmental variables?

We investigated relationships between richness patterns of rare and common grassland species and environmental factors, focussing on comparing the degree to which the richness patterns of rare and common species are determined by simple environmental variables. Using data collected in the Machair grassland of the Outer Hebrides of Scotland, we fitted spatial regression models using a suite of grazing, soil physicochemical and microtopographic covariates, to nested sub-assemblages of vascular and non-vascular species ranked according to rarity. As expected, we found that common species drive richness patterns, but rare vascular species had significantly stronger affinity for high richness areas. After correcting for the prevalence of individual species distributions, we found differences between common and rare species in 1) the amount of variation explained: richness patterns of common species were better summarised by simple environmental variables, 2) the associations of environmental variables with richness showed systematic trends between common and rare species with coefficient sign reversal for several factors, and 3) richness associations with rare environments: richness patterns of rare vascular species significantly matched rare environments but those of non-vascular species did not. Richness patterns of rare species, at least in this system, may be intrinsically less predictable than those of common species.

Realizing a high magnetic moment in Gd/Cr/FeCo: The role of the rare earth

The search for materials or systems exhibiting a high magnetic saturation has been of longstanding importance. It has been suggested that increased saturation could be achieved by coupling a transition metal via a spacer to a rare earth. We report Gd/Cr/Fe₇₀Co₃₀ multilayer stacks and find reduced yet modulating magnetic moment as a function of Cr thickness. Through a micro structural analysis the lowered moment is indicated by the nucleation of the ultrathin Gd films into an fcc phase. We discuss the possible solution in terms of quasi-perfect lattice match seed material to promote growth of hcp Gd.

Outcomes and process in reading tutoring

Background: Large-scale randomised controlled trials are relatively rare in education. The present study approximates to, but is not exactly, a randomised controlled trial. It was an attempt to scale up previous small peer tutoring projects, while investing only modestly in continuing professional development for teachers.Purpose: A two-year study of peer tutoring in reading was undertaken in one local education authority in Scotland. The relative effectiveness of cross-age versus same-age tutoring, light versus intensive intervention, and reading versus reading and mathematics tutoring were investigated.Programme description (if relevant): The intervention was Paired Reading, a freely available cross-ability tutoring method applied to books of the pupils' choice but above the tutee's independent readability level. It involves Reading Together and Reading Alone, and switching from one to the other according to need.Sample: Eighty-seven primary schools of overall average socio-economic status, ability and gender in one council in Scotland. There were few ethnic minority students. Proportions of students with special needs were low. Children were eight and 10 years old as the intervention started. Macro-evaluation n = 3520. Micro-evaluation Year 1 15 schools n = 592, Year 2 a different 15 schools n = 591, compared with a comparison group of five schools n = 240.Design and methods: Almost all the primary schools in the local authority participated and were randomly allocated to condition. A macro-evaluation tested and retested over a two-year period using Performance Indicators in Primary Schools. A micro-evaluation tested and retested within each year using norm-referenced tests of reading comprehension. Macro-evaluation was with multi-level modelling, micro-evaluation with descriptive statistics and effect sizes, analysis of variance (ANOVA) and multivariate analysis of variance (MANOVA).Results: Macro-evaluation yielded significant pre-post gains in reading attainment for cross-age tutoring over both years. No other differences were significant. Micro-evaluation yielded pre-post changes in Year 1 (selected) and Year 2 (random) greater than controls, with no difference between same-age and cross-age tutoring. Light and intensive tutoring were equally effective. Tutoring reading and mathematics together was more effective than only tutoring reading. Lower socio-economic and lower reading ability students did better. Girls did better than boys. Regarding observed implementation quality, some factors were high and others low. Few implementation variables correlated with attainment gain.Conclusions: Paired Reading tutoring does lead to better reading attainment compared with students not participating. This is true in the long term (macro-evaluation) for cross-age tutoring, and in the short term (micro-evaluation) for both cross-age and same-age tutoring. Tutors and tutees benefited. Intensity had no effect but dual tutoring did have an effect. Low-socio-economic status, low-ability and female students did better. The results of the different forms of evaluation were indeed different. There are implications for practice and for future research. © 2012 Copyright Taylor and Francis Group, LLC.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four individuals of a two-generation family with autosomal dominant maculopathy and identified a rare variant p.Glu1144Lys in Fibrillin 2 (FBN2), a glycoprotein of the elastin-rich extracellular matrix (ECM). Sanger sequencing validated the segregation of this variant in the complete pedigree, including two additional affected and one unaffected individual. Sequencing of 192 maculopathy patients revealed additional rare variants, predicted to disrupt FBN2 function. We then undertook additional studies to explore the relationship of FBN2 to macular disease. We show that FBN2 localizes to Bruch's membrane and its expression appears to be reduced in aging and AMD eyes, prompting us to examine its relationship with AMD. We detect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD in 10,337 cases and 11,174 controls (OR=1.10; p-value=3.79×10(-5)). Thus, it appears that rare and common variants in a single gene - FBN2 - can contribute to Mendelian and complex forms of macular degeneration. Our studies provide genetic evidence for a key role of elastin microfibers and Bruch's membrane in maintaining blood-retina homeostasis and establish the importance of studying orphan diseases for understanding more common clinical phenotypes.

Influence of strain and polycrystalline ordering on magnetic properties of high moment rare earth metals and alloys

Despite being the most suitable candidates for solenoid pole pieces in state-of-the-art superconductor- based electromagnets, the intrinsic magnetic properties of heavy rare earth metals and their alloys have gained comparatively little attention. With the potential of integration in micro- and nanoscale devices, thin films of Gd, Dy, Tb, DyGd and DyTb were plasma-sputtered and investigated for their in-plane magnetic properties, with an emphasis on magnetisation vs. temperature profiles. Based on crystal structure analysis of the polycrystalline rare earth films, which consist of a low magnetic moment FCC layer at the seed interface topped with a higher moment HCP layer, an experimental protocol is introduced which allows the direct magnetic analysis of the individual layers. In line with the general trend of heavy lanthanides, the saturation magnetisation was found to drop with increasing unit cell size. In-situ annealed rare earth films exceeded the saturation magnetisation of a high-moment Fe65Co35 reference film in the cryogenic temperature regime, proving their potential for pole piece applications; however as-deposited rare earth films were found completely unsuitable. In agreement with theoretical predictions, sufficiently strained crystal phases of Tb and Dy did not exhibit an incommensurate magnetic order, unlike their single-crystal counterparts which have a helical phase. DyGd and DyTb alloys followed the trends of the elemental rare earth metals in terms of crystal structure and magnetic properties. Inter-rare-earth alloys hence present a desirable blend of saturation magnetisation and operating temperature.

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe.

Clinical trial designs for rare diseases: Studies developed and discussed by the International Rare Cancers Initiative

BACKGROUND: The past three decades have seen rapid improvements in the diagnosis and treatment of most cancers and the most important contributor has been research. Progress in rare cancers has been slower, not least because of the challenges of undertaking research.

SETTINGS: The International Rare Cancers Initiative (IRCI) is a partnership which aims to stimulate and facilitate the development of international clinical trials for patients with rare cancers. It is focused on interventional--usually randomized--clinical trials with the clear goal of improving outcomes for patients. The key challenges are organisational and methodological. A multi-disciplinary workshop to review the methods used in ICRI portfolio trials was held in Amsterdam in September 2013. Other as-yet unrealised methods were also discussed.

RESULTS: The IRCI trials are each presented to exemplify possible approaches to designing credible trials in rare cancers. Researchers may consider these for use in future trials and understand the choices made for each design.

INTERPRETATION: Trials can be designed using a wide array of possibilities. There is no 'one size fits all' solution. In order to make progress in the rare diseases, decisions to change practice will have to be based on less direct evidence from clinical trials than in more common diseases.